Variant report

Variant	rs10147124
Chromosome Location	chr14:71597631-71597632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10133733	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10139448	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10142792	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10145022	0.83[ASN][1000 genomes]
rs10162428	0.82[ASN][1000 genomes]
rs10220379	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10483835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11846003	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11847244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11849831	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432180	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12432587	0.90[ASN][1000 genomes]
rs12433409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12435253	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12435675	1.00[CEU][hapmap]
rs12436649	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12436920	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12436970	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12436976	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12880918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884923	0.83[ASN][1000 genomes]
rs12886096	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12891140	0.83[EUR][1000 genomes]
rs12891245	0.85[CEU][hapmap]
rs12891445	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468469	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17093729	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17108730	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17108753	0.81[EUR][1000 genomes]
rs17108869	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17109008	0.94[ASN][1000 genomes]
rs1978163	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051865	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2158998	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526891	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs28371425	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34007279	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34119685	0.87[ASN][1000 genomes]
rs34740221	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34927411	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34968850	0.81[ASN][1000 genomes]
rs34971726	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34998980	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35041597	0.83[EUR][1000 genomes]
rs35092982	0.83[EUR][1000 genomes]
rs35523654	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35714454	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36089307	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4488390	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4614662	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902872	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902874	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902877	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902878	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902882	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902883	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61990447	0.88[ASN][1000 genomes]
rs71425229	0.83[EUR][1000 genomes]
rs7146777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7147788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7148530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7152435	0.90[ASN][1000 genomes]
rs7157279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7158548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73297555	0.92[ASN][1000 genomes]
rs7492431	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs8010701	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs8015773	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs987579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9989203	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9989204	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71595600-71598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71596600-71597800	Enhancers	Placenta	Placenta
3	chr14:71596600-71598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:71596800-71597800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr14:71596800-71597800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:71596800-71597800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:71596800-71597800	Enhancers	Left Ventricle	heart
8	chr14:71596800-71597800	Flanking Active TSS	K562	blood
9	chr14:71596800-71598200	Enhancers	NHEK	skin
10	chr14:71596800-71598400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:71596800-71598400	Enhancers	NHLF	lung
12	chr14:71597000-71597800	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:71597000-71597800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:71597000-71597800	Enhancers	Spleen	Spleen
15	chr14:71597000-71597800	Flanking Active TSS	NH-A	brain
16	chr14:71597000-71597800	Enhancers	NHDF-Ad	bronchial
17	chr14:71597000-71598000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:71597000-71598000	Enhancers	HMEC	breast
19	chr14:71597000-71598200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:71597000-71598200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:71597000-71598200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:71597000-71598200	Enhancers	Fetal Heart	heart
23	chr14:71597000-71598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:71597200-71597800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:71597200-71597800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:71597200-71597800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:71597200-71597800	Enhancers	HSMM	muscle
28	chr14:71597200-71598200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr14:71597200-71598200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:71597200-71598200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:71597200-71598200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:71597400-71597800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:71597400-71597800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:71597400-71597800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:71597400-71597800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr14:71597400-71597800	Active TSS	Hela-S3	cervix
37	chr14:71597400-71597800	Active TSS	Osteobl	bone
38	chr14:71597400-71598200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:71597400-71598200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:71597400-71598400	Flanking Active TSS	HUVEC	blood vessel
41	chr14:71597400-71605600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:71597600-71597800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:71597600-71597800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:71597600-71597800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:71597600-71597800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr14:71597600-71598000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:71597600-71598000	Enhancers	Brain Germinal Matrix	brain
48	chr14:71597600-71598200	Active TSS	Brain Angular Gyrus	brain
49	chr14:71597600-71598200	Enhancers	Stomach Mucosa	stomach
50	chr14:71597600-71598400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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